Varaico: Literature-Extracted Genetic Variants

ERAP2

119 papers

RefSeq Summary

This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major his...

Pfam Domains

Peptidase_M1_Naa 74–263UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 298–541UCSCPeptidase family M1 domain

ERAP1_Caa 620–940UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

endoplasmic reticulum aminopeptidase 2

HGNC Alias Symbols

L-RAP; LRAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022350.5

p.C269fs

c.805_806fs

Surrounding Variants

1 paper

NM_022350.5

p.V268delFs

c.803delT

1 paper

NM_022350.5

p.K238_V239Splc

c.715-1G>T

1 paper

NM_022350.5

p.K283_V284Splc

c.850-1G>T

2 papers

NM_022350.5

p.S289A

c.865T>G

1 paper

NM_022350.5

p.K292*

c.874A>T

1 paper

NM_022350.5

p.R293Q

c.878G>A

1 paper

NM_022350.5

p.L300L

c.898T>C

1 paper

NM_022350.5

p.L323R

c.968T>G

1 paper

NM_022350.5

p.K223N

c.669G>C

1 paper

NM_022350.5

p.K223N

c.669G>T

7 papers

NM_022350.5

p.P214L

c.641C>T

1 paper

NM_022350.5

p.L341I

c.1021C>A